LOCUS       NM_181789               4932 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens gliomedin (GLDN), transcript variant 1, mRNA.
ACCESSION   NM_181789
VERSION     NM_181789.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4932)
  AUTHORS   Mis,E.K., Al-Ali,S., Ji,W., Spencer-Manzon,M., Konstantino,M.,
            Khokha,M.K., Jeffries,L. and Lakhani,S.A.
  TITLE     The latest FADS: Functional analysis of GLDN patient variants and
            classification of GLDN-associated AMC as a type of viable fetal
            akinesia deformation sequence
  JOURNAL   Am J Med Genet A 182 (10), 2291-2296 (2020)
   PUBMED   32812332
  REMARK    GeneRIF: The latest FADS: Functional analysis of GLDN patient
            variants and classification of GLDN-associated AMC as a type of
            viable fetal akinesia deformation sequence.
REFERENCE   2  (bases 1 to 4932)
  AUTHORS   Wambach,J.A., Stettner,G.M., Haack,T.B., Writzl,K., Skofljanec,A.,
            Maver,A., Munell,F., Ossowski,S., Bosio,M., Wegner,D.J.,
            Shinawi,M., Baldridge,D., Alhaddad,B., Strom,T.M., Grange,D.K.,
            Wilichowski,E., Troxell,R., Collins,J., Warner,B.B., Schmidt,R.E.,
            Pestronk,A., Cole,F.S. and Steinfeld,R.
  TITLE     Survival among children with 'Lethal' congenital contracture
            syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)
  JOURNAL   Hum Mutat 38 (11), 1477-1484 (2017)
   PUBMED   28726266
  REMARK    GeneRIF: Our findings expand the genotypic and phenotypic spectrum
            of LCCS11 and demonstrate that the condition may not necessarily be
            lethal in the neonatal period.
REFERENCE   3  (bases 1 to 4932)
  AUTHORS   Maluenda,J., Manso,C., Quevarec,L., Vivanti,A., Marguet,F.,
            Gonzales,M., Guimiot,F., Petit,F., Toutain,A., Whalen,S.,
            Grigorescu,R., Coeslier,A.D., Gut,M., Gut,I., Laquerriere,A.,
            Devaux,J. and Melki,J.
  TITLE     Mutations in GLDN, Encoding Gliomedin, a Critical Component of the
            Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis
  JOURNAL   Am J Hum Genet 99 (4), 928-933 (2016)
   PUBMED   27616481
  REMARK    GeneRIF: data indicate that mutations of GLDN or CNTNAP1 (MIM:
            616286), encoding essential components of the nodes of Ranvier and
            paranodes, respectively, lead to inherited nodopathies, a distinct
            disease entity among peripheral neuropathies
REFERENCE   4  (bases 1 to 4932)
  AUTHORS   Han,H. and Kursula,P.
  TITLE     The olfactomedin domain from gliomedin is a beta-propeller with
            unique structural properties
  JOURNAL   J Biol Chem 290 (6), 3612-3621 (2015)
   PUBMED   25525261
REFERENCE   5  (bases 1 to 4932)
  AUTHORS   Han,H. and Kursula,P.
  TITLE     Expression, purification, crystallization and preliminary X-ray
            crystallographic analysis of the extracellular olfactomedin domain
            of gliomedin
  JOURNAL   Acta Crystallogr F Struct Biol Commun 70 (Pt 11), 1536-1539 (2014)
   PUBMED   25372825
REFERENCE   6  (bases 1 to 4932)
  AUTHORS   Eshed,Y., Feinberg,K., Carey,D.J. and Peles,E.
  TITLE     Secreted gliomedin is a perinodal matrix component of peripheral
            nerves
  JOURNAL   J Cell Biol 177 (3), 551-562 (2007)
   PUBMED   17485493
REFERENCE   7  (bases 1 to 4932)
  AUTHORS   Maertens,B., Hopkins,D., Franzke,C.W., Keene,D.R.,
            Bruckner-Tuderman,L., Greenspan,D.S. and Koch,M.
  TITLE     Cleavage and oligomerization of gliomedin, a transmembrane collagen
            required for node of ranvier formation
  JOURNAL   J Biol Chem 282 (14), 10647-10659 (2007)
   PUBMED   17293346
REFERENCE   8  (bases 1 to 4932)
  AUTHORS   Eshed,Y., Feinberg,K., Poliak,S., Sabanay,H., Sarig-Nadir,O.,
            Spiegel,I., Bermingham,J.R. Jr. and Peles,E.
  TITLE     Gliomedin mediates Schwann cell-axon interaction and the molecular
            assembly of the nodes of Ranvier
  JOURNAL   Neuron 47 (2), 215-229 (2005)
   PUBMED   16039564
REFERENCE   9  (bases 1 to 4932)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10 (bases 1 to 4932)
  AUTHORS   Graveel,C.R., Harkins-Perry,S.R., Acevedo,L.G. and Farnham,P.J.
  TITLE     Identification and characterization of CRG-L2, a new marker for
            liver tumor development
  JOURNAL   Oncogene 22 (11), 1730-1736 (2003)
   PUBMED   12642876
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020891.8, BK001262.1 and
            BX101284.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_181789.3.
            
            Summary: This gene encodes a protein that contains
            olfactomedin-like and collagen-like domains. The encoded protein,
            which exists in both transmembrane and secreted forms, promotes
            formation of the nodes of Ranvier in the peripheral nervous system.
            Mutations in this gene cause a form of lethal congenital
            contracture syndrome in human patients. Autoantibodies to the
            encoded protein have been identified in sera form patients with
            multifocal motor neuropathy. [provided by RefSeq, May 2017].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1), which undergoes
            proteolytic processing to generate a secreted form of the protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.174888.1,
                                           SRR1803615.51441.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335449.11/ ENSP00000335196.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                AC020891.8         71344-71373
            31-1686             BK001262.1         1-1656
            1687-4149           AC020891.8         134444-136906
            4150-4932           BX101284.1         1-783
FEATURES             Location/Qualifiers
     source          1..4932
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.2"
     gene            1..4932
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /note="gliomedin"
                     /db_xref="GeneID:342035"
                     /db_xref="HGNC:HGNC:29514"
                     /db_xref="MIM:608603"
     exon            1..393
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..1686
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; collomin; colmedin"
                     /codon_start=1
                     /product="gliomedin isoform 1 precursor"
                     /protein_id="NP_861454.2"
                     /db_xref="CCDS:CCDS10140.2"
                     /db_xref="GeneID:342035"
                     /db_xref="HGNC:HGNC:29514"
                     /db_xref="MIM:608603"
                     /translation="MARGAEGGRGDAGWGLRGALAAVALLSALNAAGTVFALCQWRGL
                     SSALRALEAQRGREQREDSALRSFLAELSRAPRGASAPPQDPASSARNKRSHSGEPAP
                     HIRAESHDMLMMMTYSMVPIRVMVDLCNSTKGICLTGPSGPPGPPGAGGLPGHNGLDG
                     QPGPQGPKGEKGANGKRGKMGIPGAAGNPGERGEKGDHGELGLQGNEGPPGQKGEKGD
                     KGDVSNDVLLAGAKGDQGPPGPPGPPGPPGPPGPPGSRRAKGPRQPSMFNGQCPGETC
                     AIPNDDTLVGKADEKASEHHSPQAESMITSIGNPVQVLKVTETFGTWIRESANKSDDR
                     IWVTEHFSGIMVKEFKDQPSLLNGSYTFIHLPYYFHGCGHVVYNNSLYYHKGGSNTLV
                     RFEFGQETSQTLKLENALYFDRKYLFANSKTYFNLAVDEKGLWIIYASSVDGSSILVA
                     QLDERTFSVVQHVNTTYPKSKAGNAFIARGILYVTDTKDMRVTFAFDLLGGKQINANF
                     DLRTSQSVLAMLAYNMRDQHLYSWEDGHLMLYPVQFLSTTLNQ"
     exon            394..445
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /inference="alignment:Splign:2.1.0"
     exon            446..463
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /inference="alignment:Splign:2.1.0"
     exon            464..571
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /inference="alignment:Splign:2.1.0"
     exon            572..718
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /inference="alignment:Splign:2.1.0"
     exon            719..847
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /inference="alignment:Splign:2.1.0"
     exon            848..931
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1057
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1208
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /inference="alignment:Splign:2.1.0"
     exon            1209..4932
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4912..4917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /note="hexamer: AATAAT"
     polyA_site      4932
                     /gene="GLDN"
                     /gene_synonym="CLOM; COLM; CRG-L2; CRGL2; LCCS11; UNC-112;
                     UNC-122"
                     /note="major polyA site"
ORIGIN      
        1 aagccctgcc ctgcccaagg cgcatagagc atggcccgag gcgctgaggg aggccgtggg
       61 gacgcgggtt ggggcctgcg tggcgccctg gcggccgtgg cgctgctctc ggcgctcaac
      121 gctgcgggca cggtgttcgc gctgtgccag tggcgcgggc tgagctcggc gctgcgggct
      181 ttggaggcgc agcggggccg ggagcagcgc gaggacagtg ccctgcgctc cttcctggcc
      241 gagttgagcc gcgcgccgcg cggggcgtcc gcaccacccc aagacccggc cagctcagct
      301 cgcaacaagc gcagccacag cggcgagccc gcgccgcata tccgcgccga gagccatgac
      361 atgctgatga tgatgaccta ctccatggtg ccgatccgag tgatggtgga cctgtgcaac
      421 agcaccaagg gcatctgcct cacaggacct tctggaccac caggacctcc gggagccggc
      481 gggttgccag gacacaacgg attggatgga cagcctggtc ctcagggccc aaaaggagaa
      541 aaaggagcaa atggaaaaag aggaaaaatg gggatacctg gagctgcagg aaatccaggg
      601 gaaaggggag aaaagggaga ccatggtgaa ctgggcctgc agggaaatga gggcccacca
      661 gggcagaagg gagaaaaggg tgacaaagga gatgtgtcca acgacgtgct cctggcaggt
      721 gccaaaggtg accaaggccc acccggtcca cctgggcccc caggccctcc aggtcctcca
      781 gggccccctg gaagcagaag agccaaaggc cctcggcagc caagcatgtt caacggccag
      841 tgcccaggtg agacttgtgc cataccaaat gatgatacct tggttggaaa agctgatgag
      901 aaagccagtg aacaccattc cccacaagca gaatccatga tcacttccat tggaaaccca
      961 gtgcaagtac tgaaagtgac agagacattt gggacttgga taagagagtc tgctaacaag
     1021 agtgatgacc ggatttgggt gacagagcat ttttcaggca tcatggttaa ggaattcaag
     1081 gatcagccct cacttctgaa tggcagttac acgttcatcc accttccata ctatttccat
     1141 ggctgtgggc acgttgttta caacaactct ctctactacc acaaaggggg ttctaatacc
     1201 ctagtgagat ttgaatttgg ccaggaaaca tcccaaactc tgaagcttga aaatgccttg
     1261 tattttgatc gaaaatacct ttttgcaaat tccaaaactt acttcaatct agctgtagat
     1321 gaaaagggcc tttggattat ctatgcgtca agtgtggacg gctcgagcat tcttgtagca
     1381 caactggatg agaggacatt ctcagtggtg caacacgtca ataccacgta ccctaaatcc
     1441 aaggctggca acgccttcat tgcccgagga atcctctatg tcacagacac caaagatatg
     1501 agggtcacat ttgcctttga tttgttagga gggaaacaga tcaatgcaaa ctttgattta
     1561 agaacttccc agtctgttct tgccatgtta gcatacaaca tgagagatca gcatttatat
     1621 tcatgggaag atggccattt aatgctttat cctgtgcagt ttttgtcaac taccttaaat
     1681 cagtgatgtg ctgcattcgg ctcccttcag caaatttcag gggttttctg ggaccagttc
     1741 tcccccaaca ggaaacttgt ttttttaacg tcagccagat atttagaaaa taacctcaaa
     1801 agtgtttata tggtcagtga gccccgctta gtgaaatagc aacagattgg aagttgaaat
     1861 ggctgagatt tggtgatctc cccacagctg gctctgcaag ttacctcttt ctccttgggc
     1921 cttagtttcc ccattggtaa tctgaattgg ctaagatgat tggggagatt ttctgtacct
     1981 gtaggtaatt tggtgattct tggtggctgc tcttctcaca acttttatgt atctgcttct
     2041 gtcgtttagc ttttttagcc acatgctgac caaatttacc tttgagttga taagtccagt
     2101 ggcttgagta gtgaatccct cagtgctgac ttatatcttg ttctttgaaa aaatgcattg
     2161 actctttaag acatctaaag tatcacatta tccataattt attgcttttc tttgcatctg
     2221 cacctgccac cacagaataa ccattaccct cagctgctga ttgggcagct ctgagattag
     2281 caaaagccag ggacagctac atgttcaggt tttttttttt tttttttttt caataagcta
     2341 ttttttttct tttcttattt taaatagaga gagagtcttg ctatgtttcc caggctggtc
     2401 ttgaactcct ggggctcaag tgatcctcct gccttggcct cccaaaatgc tggattacag
     2461 gcatgtgtgc ctggcccagg tttcttaata aaacagaatc atgatcttcc aggttccccc
     2521 cagtttctga tcatgttgat ttgtagctgt ggatcatgaa cactgaatcc tcagatcact
     2581 ctgacttctt atgcttctcc tgtggatcca ctatcaaagt actaaatgct gtgtaagtag
     2641 acgttaatct ggctggaacc atgggaagca ctttgcagtg ttcagaagag aggctccatt
     2701 tgtggctatt atgtagaact gggccagagc cagtccattg cctgtttttt taaataaggt
     2761 tttactgagc acagccacac tcatttgttt atgcagtacg gcctgacatt gcttttgctc
     2821 tgcaacagca gagtcgagtc attgcaacaa agagcatatg gccccacagt gcctaaaata
     2881 ttgaccagct acccctttat ggaaaaagat tgctgactcc tgataaagaa tataaagtga
     2941 gcctgattct tgaaaaaatc agaaccagag cctgttttgt tttgttctaa actaagaagc
     3001 cgcataggat gtgacttgcg ttttgagtag aggggaaggc tgataacggc gtaagatgaa
     3061 gtggccctcc acaaaggctg gttaggggac agttctttct ctaacatagt tttaaaggat
     3121 gtgatctggt ccccttggat gccaggagag aatccagttg aacttgctcc taaatgctct
     3181 taaatatgca tattttctgc caactcactt ctttaaacat ctttcagccc agcgctgcgg
     3241 ccccgggaag ggccactgcg aatagagagg aagctggaaa agttcctggg gctctgcagc
     3301 caggaagggg aaccagggca aatcttatgt aaagattttt cagcaacttg tcccaatttg
     3361 tgtgtattct gaaactttct ctttgggacc aaattcattc tcaatggccc tgagttcaat
     3421 atattattaa cagcagtatt ttaaaactta gggttgaact gggcatggtg gcacataact
     3481 gcaatcccag ctactttgga ggcagggatg ggaggatcac ttgaggccag gatctcagga
     3541 ccagcctaga gagatcccat ctctaaaaaa taaaatataa gaaaataaaa cttaggggat
     3601 atacagattt aaatattcaa atctccctgc tcccctgaaa gtccccaggc agctgtcaat
     3661 gacttgtttg ttgtgttctc aatatgatgg ctatttgaaa cttcacctac ttttcattag
     3721 attggttgta ccatgtcacc ttagctttta aaaatactct tttcagattc acgttctcta
     3781 acaaagagtc tcatgttcaa gatcaatatg tctaataagt gctggtgtcc ttttaaagta
     3841 tttaaatata tatgttgctg ttgctgaata caggagacca ggttaggaat atagtttcat
     3901 aataatagta catacaatac taattgtata taaggtagca accaaaagag gttgttaatt
     3961 agcacatatt ccttttagaa aaatgtttca gaaacctcag tcttgatatc tgagctatct
     4021 gggctccctt acttgtgagt aagggatcat gctcaccact ggagaagctt acaccgggac
     4081 tttttttctt ttttcttttt tttttgctat gacagagtaa tgctaacgta aggacaactg
     4141 agtttgatca gtgtttaatc gcagtgggta atcttatctg attgtcttta aaagtgaaaa
     4201 ggattaagat tttattcttt cttgtaaaca ttacttgatt ttttaaagaa gttttgggct
     4261 cactgctaaa atagagtata caactgaatg tttttaagtc aagatactgt tttaggagtt
     4321 taccctctca tttataacca aagttgctct aaaacacttt ccaaatatct gcacttctga
     4381 tgtcagaatc aaaccagata attctctaat tcttctttaa tctaaagtag atagcttccc
     4441 actggaaagt aaacaaaacc atccctccca acctcaaagc taggccacac tctatttcaa
     4501 ggcattttct ttcagctgat aaggtgtcct cctgaagcca agtaggtggt tctggtctcc
     4561 aagtatcgtt aagcacaggt gctatgacag aaaaagttct ggggtggaag ttttaagatg
     4621 aggagttctg atcttaggca tcttaacagt cacaaggtga aaagtcaaat gaaacagtac
     4681 aattcttgat gagtgaggtg tcatcttcca accacacaga ggacgttttg gctatgatca
     4741 tctgatggca agtgaaggag aaatgagtga tagggctttg cgttttcatc cagatgctgt
     4801 ggccctgtgt ttcacagcat taagagccat aatttccaac ctgcacagat cctgaacaac
     4861 aaatgaataa cgatgaatgt ctttttggtt gtaatttaac aagtcaaata aaataatcat
     4921 tgctgagcac aa
//
